Clinical significance of NCOA5 gene rs2903908 polymorphism in Behçet's disease.

Behçet's disease (BD) is an autoimmune multisystemic disease. The precise etiology of BD is not fully understood; however, it is thought that interactions between genetic and environmental factors play an essential role in its pathogenesis. The nuclear receptor coactivator-5 (NCOA5) gene encodes a coregulator for nuclear receptor subfamily 1 group D member 2 (NR1D2) and estrogen receptor 1 and 2 (ESR1 and ESR2). Also, the NCOA5 gene insufficiency leads to an elevated expression of IL-6, and increased levels of IL-6 were found to be related to the pathogenesis of BD. In this study, we aimed to clarify the impact of the NCOA5 rs2903908 polymorphism on susceptibility and clinical findings of BD. This study included 671 participants (300 BD patients and 371 healthy controls). The analyses of NCOA5 rs2903908 polymorphism was performed by using the TaqMan allelic discrimination assay. The frequency of TT genotype of the NCOA5 rs2903908 polymorphism was found significantly higher in BD patients compared to those in healthy controls (p=0.016, OR=1.46, 95 % CI=1.08-1.99). Also, the frequencies of CT genotype was observed significantly higher in BD patients with genital ulceration and uveitis than without genital ulceration and uveitis (p=0.002 and p=0.005, respectively). The most significant association was found between C allele frequencies of BD patients with and without uveitis (p=0.0001). Our study represents for the first time that the NCOA5 rs2903908 polymorphism seemed to be linked to BD susceptibility and clinical findings.

Assessment of Corneal Parameters with Scheimpflug Imaging in Patients with Ankylosing Spondylitis.

PURPOSE: To evaluate corneal parameters of patients with ankylosing spondylitis (AS) by Scheimpflug imaging and also to clarify the associations between disease severity and clinical status of AS and corneal parameters. METHODS: Fifty-seven patients with AS and 57 healthy subjects were included in this cross-sectional study. All participants underwent a detailed ophthalmological evaluation. Corneal parameters were measured by Pentacam. In addition, Schirmer test, tear break-up time (TBUT), corneal fluorescein staining, and Ocular Surface Disease Index (OSDI) scores were evaluated. Duration of disease and scores of Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) and Ankylosing Spondylitis Quality of Life scale (ASQoL) of the patients were recorded. The laboratory evaluation consisted of human leukocyte antigen (HLA)-B27, erythrocyte sedimentation rate (ESR), and C-reactive protein (CRP). RESULTS: Corneal parameters were significantly different between patients with AS and healthy controls. The mean central corneal thickness (538 ± 26 µm versus 569 ± 27 µm, p < 0.001) and the mean corneal volume (59.8 ± 3.33 mm3 versus 62.3 ± 3.40 mm3, p < 0.001) were reduced significantly in AS patients compared to those in healthy controls. The values of TBUT and Schirmer test scores were significantly lower in AS patients than in controls. Also, corneal fluorescein staining and OSDI scores were higher in AS patients than in controls. Factors related to the corneal parameters were dry eye tests (TBUT, Schirmer test, corneal fluorescein staining), OSDI score, and CRP (p < 0.05 for all). CONCLUSION: The AS patients have thinner corneas compared to control subjects, which may be affected by tear disfunction and inflammatory processes.

Ankylosing Spondylitis patients with Type D personality have worse clinical status.

OBJECTIVES: Type D personality was identified as an important factor that can explain the differences in clinical outcomes in various diseases. The aim of this study is to clarify the relationships between Type D personality and clinical status of patients with Ankylosing Spondylitis (AS). METHODS: The scores of the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), Ankylosing Spondylitis Disease Activity Score (ASDAS)-C-reactive protein (CRP), and erythrocyte sedimentation rate (ESR), the Bath Ankylosing Spondylitis Functional Index (BASFI), the 36-Item Short-Form Health Survey (SF-36), and 14-item Type D Scale (DS-14) were noted. RESULTS: We found significantly higher levels of the BASDAI, the BASFI, and the SF-36 mental subscale scores in patients with Type D personalities compared to those who were Non-Type D (p < 0.05). The total DS-14 scores were found to be correlated with the scores of physical and mental subscales of SF-36, the BASDAI, the BASFI, ASDAS-CRP, and ESR (p < 0.05). In logistic regression analysis, the occurrence of Type D personality was found to be an independent predictor for disease activity of AS due to BASDAI and ASDAS-ESR (p = 0.016, OR, 95% CI = 2.98,1.23-7.22; p = 0.022, OR, 95% CI = 2.78,1.16-6.63 respectively). CONCLUSIONS: Patients may over-rate self-reported measurements such as the BASDAI, BASFI, and SF-36 related to their interpersonal characteristics. Therefore, including the Type D personality, which is a stable construct in evaluating AS patients with brief and valid DS-14, may be noteworthy.

Associations analysis of GSTM1, T1 and P1 Ile105Val polymorphisms with carpal tunnel syndrome.

Oxidative stress was related with carpal tunnel syndrome (CTS). We aimed to clarify the associations between glutathione S-transferase (GST)M1, GSTT1 and GSTP1-Ile105Val polymorphisms and CTS. One hundred-forty patients with CTS and 97 healthy controls were enrolled in this study. Tinel and Phalen signs were noted as positive or negative. Functional and clinical status of patients was evaluated by the Boston Questionnaire. The intensity of hand and/or wrist pain was evaluated on 10 cm visual analog scale (VAS). We applied the polymerase chain reaction (PCR) to determine the polymorphisms of the GSTM1 and GSTT1 and the PCR-restriction fragment length polymorphism method for detecting the GSTP1-Ile105Val polymorphism. The M1 null genotype was significantly higher in patients with CTS compared to healthy controls, and the M1 null genotype seemed to increase the risk of CTS approximately two-fold (P = 0.011; odds ratio (OR) = 1.98; 95 % confidence interval (CI) 1.17-3.36). The M1 null, T1 present combined genotype was significantly higher in patients with CTS compared to healthy controls (P = 0.043); however, it seemed not to increase the risk of CTS (P = 0.14; OR = 0.62; 95 % CI 0.33-1.76). We found significantly higher levels of the VAS, Boston Symptom Severity Scale and Phalen sign in patients with the Ile/Val or the Val/Val genotypes compared to those in patients with the Ile/Ile genotype (P = 0.003, 0.004 and 0.044, respectively). We proposed that genes involved in the protection from oxidative stress may influence the susceptibility, clinical and functional status of CTS. The GSTM1 null genotype may be related with the development of CTS, whereas the Val allele of GSTP1-Ile105Val polymorphism may be associated with worse functional and clinical status in CTS.

Effects of hyperthyroidism on hand grip strength and function.

Hyperthyroidism is a pathologic condition in which the body is exposed to excessive amounts of circulating thyroid hormones. Skeletal muscle is one of the major target organs of thyroid hormones. We evaluated hand grip strength and function in patients with overt hyperthyroidism. Fifty-one patients newly diagnosed with hyperthyroidism and 44 healthy controls participated in this study. Age, height, weight, and dominant hand of all participants were recorded. The diagnosis of hyperthyroidism was confirmed by clinical examination and laboratory tests. Hand grip strength was tested at the dominant hand with a Jamar hand dynamometer. The grooved pegboard test (PGT) was used to evaluate hand dexterity. The Duruöz Hand Index (DHI) was used to assess hand function. No significant differences were found in terms of clinical and demographic findings between the patients with hyperthyroidism and healthy controls (p > 0.05). Significant differences were found between the patients with hyperthyroidism and healthy controls regarding PGT and DHI scores (p < 0.05). Hyperthyroidism seemed to affect hand dexterity and function more than hand grip strength and seemed to be associated with reduced physical function more than muscle strength. This may also indicate that patients with hyperthyroidism should be evaluated by multidisplinary modalities.

The Influence of Polymorphisms of Interleukin-17A and -17F Genes on Susceptibility and Activity of Rheumatoid Arthritis.

BACKGROUND: The roles of interleukin (IL)-17A and IL-17F in the pathogenesis of rheumatoid arthritis (RA) have been previously studied. However, the relationships between polymorphisms (IL-17A G197A, the IL-17F 7488A/G, and the IL-17F 7383A/G) of these genes with RA have not been clarified yet. AIMS: To investigate the impacts of these polymorphisms on the severity and susceptibility of RA in a Turkish population. METHODS: One hundred sixty-one patients with RA and 88 healthy sex-, age-, and ethnicity-matched controls were enrolled in this study. The erythrocyte sedimentation rate, C-reactive protein (CRP), and disease activity scores 28 (DAS28) of all participants were recorded. The IL-17A G197A, the IL-17F 7488A/G, and 7383A/G polymorphisms were determined using the polymerase chain reaction-restriction fragment length polymorphism method. RESULTS: We found no significant difference regarding genotypes or allelic frequency distributions of the IL-17A G197A, the IL-17F 7383A/G, and 7488A/G polymorphisms between patients and healthy controls (p>0.05). There were slight, but not significant, differences in terms of CRP levels associated with the distribution of the genotypes of the IL-17F 7488A/G, and regarding DAS28 levels according to the genotype distribution of the IL-17A G197A polymorphism (p=0.062, 0.087, 0.052, respectively). CONCLUSIONS: These findings suggest that future larger scale studies with increased power should be performed to determine if the IL-17F 7488A/G and the IL-17A G197A polymorphisms are associated with the disease activity in patients with RA.

The relationship between enthesitis indices and disease activity parameters in patients with ankylosing spondylitis.

In this study, patients with ankylosing spondylitis (AS) were assessed both by patient and physician using two enthesitis indices and the relationship between these indices and disease activity parameters was investigated. The study involved 100 AS patients. The patients were evaluated with 10-cm visual analog scale (VAS) for spinal pain (VAS-S), peripheral joint pain (VAS-P), global assessment of patient, and global assessment of doctor. In the laboratory evaluations, the erythrocyte sedimentation rates (ESR) and serum C-reactive protein levels of the patients were determined. Bath AS disease activity index (BASDAI), Bath AS functional index (BASFI), Bath AS metrology index, and Bath AS radiology index were calculated. The severity of enthesitis was evaluated according to Mander enthesitis index (MEI) and Maastricht ankylosing spondylitis enthesitis score applied by both the patient (MASES-P) him/herself and the physician (MASES-D). There was a correlation between BASDAI and BASFI as well as MEI, MASES-D, and MASES-P indices (r = 0.447, r = 0.342, r = 0.663, r = 0.530, r = 0.464, and r = 0.435, respectively). No correlation between the laboratory parameters and enthesitis indices were detected. In multiple linear regression analysis, BASFI, VAS-S, and female gender (41.3%) were the best predictors of MEI-D, whereas BASFI, VAS-S, female gender, and ESR (32.5%) were the best predictors for MASES-D and BASFI (18.9%) was the best predictor of MASES-P. The assessment of simple and easily applicable MASES score by a patient may be expected to help the physician in clinical practice. When the disease activity of the patients with AS are evaluated, both BASDAI, the clinical importance of which has been confirmed in numerous studies and which is recommended by ASAS, and BASFI, which is valued by patients, should be considered.

Evaluation of hearing and cochlear function by DPOAE and audiometric tests in patients with ankylosing spondilitis.

The aim of this study was to investigate cochlear functions in patients with ankylosing spondilitis (AS). Prospective, case control study. Twenty-eight AS patients (56 ears) and 25 healthy control subjects (50 ears) were included in the study. Pure-tone audiometry at 250, 500, 1,000, 2,000, 4,000, 6,000 Hz and immittance measures including tympanometry and acoustic reflex and DPOAEs (Distortion Product Otoacoustic Emission) testing were performed in the patients and controls. Pure-tone audiometry findings of the patients and controls were significantly different in all frequencies (P < 0.05). Sensorineural hearing loss was found in 10 patients (35%) that was bilateral in seven and unilateral in three patients. On DPOAE testing, there was no statistically significant difference between the levels of noise floor of the patients and controls (P > 0.05). However, the DPOAE responses of the patients and controls were significantly different in 3,000, 4,000, 5,000 and 6,000 Hz frequencies (P < 0.05). There is a damage of outer hair cells in patients with AS, and damaged outer hair cell regions mostly corresponds to the basal and mid-portions of the cochlea.